Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80357069
rs80357069
BRCA1
4 0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 1998 2015
dbSNP: rs80357596
rs80357596
BRCA1
3 0.925 0.200 17 43092849 frameshift variant CTTT/- delins 0.700 1.000 9 1996 2014
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 9 1996 2013
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 1.000 9 1995 2013
dbSNP: rs80358027
rs80358027
BRCA1
3 0.925 0.200 17 43082403 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 9 2004 2019
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 1.000 9 1998 2019
dbSNP: rs80359876
rs80359876
BRCA1
5 0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 0.700 1.000 9 1997 2014
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 8 1998 2015
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 8 1997 2015
dbSNP: rs80187739
rs80187739
BRCA1
5 0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 8 2005 2019
dbSNP: rs80356862
rs80356862
BRCA1
3 0.925 0.200 17 43071046 missense variant G/C snv 4.0E-06 0.700 1.000 8 2003 2014
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 8 2001 2019
dbSNP: rs80357600
rs80357600
BRCA1
4 0.882 0.200 17 43093857 frameshift variant TT/-;T;TTT delins 0.700 1.000 8 1997 2018
dbSNP: rs80357635
rs80357635
BRCA1
5 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 8 1998 2012
dbSNP: rs80358047
rs80358047
BRCA1
3 0.925 0.200 17 43099773 splice donor variant A/T snv 0.700 1.000 8 1997 2015
dbSNP: rs80358150
rs80358150
BRCA1
3 0.925 0.200 17 43057051 splice donor variant C/A;G;T snv 0.700 1.000 8 2001 2014
dbSNP: rs80359874
rs80359874
BRCA1
3 0.925 0.200 17 43094317 frameshift variant ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG/- delins 0.700 1.000 8 1994 2013
dbSNP: rs80356997
rs80356997
BRCA1
3 0.925 0.200 17 43076583 stop gained G/A;C;T snv 0.700 1.000 7 2003 2017
dbSNP: rs80357063
rs80357063
BRCA1
3 0.925 0.200 17 43093222 stop gained G/A;C;T snv 0.700 1.000 7 1998 2015
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 7 2004 2013
dbSNP: rs80357382
rs80357382
BRCA1
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.700 1.000 7 2001 2019
dbSNP: rs80357877
rs80357877
BRCA1
4 0.882 0.200 17 43092040 frameshift variant AGTATCTTCCT/- delins 0.700 1.000 7 1995 2011
dbSNP: rs80357997
rs80357997
BRCA1
3 0.925 0.200 17 43063889 frameshift variant C/-;CC delins 0.700 1.000 7 1995 2015
dbSNP: rs80358158
rs80358158
BRCA1
3 0.925 0.200 17 43106534 splice acceptor variant C/A;G;T snv 4.0E-06 0.700 1.000 7 1997 2019
dbSNP: rs386134270
rs386134270
BRCA1
3 0.925 0.200 17 43092695 frameshift variant TAC/G delins 0.700 1.000 6 1996 2015